Submissions for variant NM_001277115.2(DNAH11):c.5671C>T (p.Pro1891Ser)

gnomAD frequency: 0.00039  dbSNP: rs201704416

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000244745	SCV000307540	likely benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000295597	SCV000468121	uncertain significance	Primary ciliary dyskinesia	2016-06-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000295597	SCV000624145	benign	Primary ciliary dyskinesia	2025-01-20	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000295597	SCV002647803	likely benign	Primary ciliary dyskinesia	2022-12-14	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
CeGaT Center for Human Genetics Tuebingen	RCV003437042	SCV004163794	likely benign	not provided	2023-05-01	criteria provided, single submitter	clinical testing	DNAH11: BS2